A Case of Wiskott-Aldrich Syndrome with Novel Mutation in Exon 2 of the WASP Gene / 소아과

Wiskott-Aldrich syndrome(WAS) is an X-linked recessive immunodeficiency characterized by thrombocytopenia with small platelet volume, eczema, and recurrent infections, and is also characterized by increased incidence of auto immune diseases and malignancies. The phenotype observed in this syndrome is caused by mutation in the Wiskott-Aldrich syndrome protein(WASP) gene localized to the proximal short arm of the X chromosome and recently isolated through positional cloning. The gene encodes a 502 amino acid protein, which contains 12 exons and spans 9 kb of genomic DNA. The function of the encoded protein is not well understood. The clinical diagnosis of WAS can be difficult and is usually confirmed by the detection of WASP gene mutations and the expression of WSAP in patient blood sample using genetic analysis. We reported a case of a 13-month old boy with WAS who was identified with the novel mutation in exon 2 of WASP gene by direct sequencing and the complete absence of WASP expression by immunoblotting.

Echocardiographic Study of the Ventricular Septal Defect with Subaortic Ridge

PURPOSE: The easy recognition and characterization of a discrete or fixed subaortic ridge by echocardiography provides a method for prospective study of the coexistence of ventricular septal defect (VSD) and subaortic ridge. In the presence of a VSD, a subaortic ridge may be clinically silent, but the obstruction can progress if the VSD is surgically or spontaneously closed. This study was carried out to test the hypothesis that the presence of a subaortic ridge associated with a VSD is related abnormal shunt flow through the septal defect. METHODS: Serial two-dimensional echocardiographic diagnosis of the coexistence of VSD and subaortic ridge was done prospectively in 271 patients. The VSD was morphologically characterized as perimembranous, muscular, or subarterial according to the components of its borders. Also, defect size of the VSD was characterized. The presence of septal malalignment was established when the outlet septum was deviated anteriorly or posteriorly. The subaortic ridge was recognized when an echo-bright localized protusion into the left ventricular outflow tract extending from the margin of the septal defect. RESULTS: The prevalence of a subaortic ridge was 8.86% (24/271). The mean age of patients at the initial detection of a subaortic ridge was 11.3+/-9.8 months. Among the 24 patients with a subaortic ridge 14 patients (p<0.01) had more than moderate defect in size of VSD. 16 patients (16/24) had malalignment VSD (p<0.01). A subaortic ridge was found in 20 (9.9%) patients with perimembranous VSD, 4 (8.3%) with subarterial VSD. CONCLUSIONS: The presence of a subaortic ridge associated with a VSD is related to a more than moderate sized defect and/or a malaligned ventricular septum. It is possible that the increased turbulence adjustance to the area of the VSD could favor the development of an abnormal fibrous tissue below the aortic valve.

A Case of Peripheral Pulmonary Artery Aneurysm without Pulmonary Hypertension

Aneurysm of the pulmonary artery is a rare entity. Aneurysm of the peripheral artery are even less common. An 14-year-old girl was admitted for the evaluation of cardiac murmur. There was a variable grade 2/6 systolic murmur along the left sternal border. The chest x-ray showed a round mass in the right perihilar region. Echocardiogram demonstrated a small muscular ventricular septal defect with mild tricuspid regurgitation. The pulmonary arterial pressures were normal at cardiac catheterization, but pulmonary angiography indicated an aneurysm of the intrapulmonary portion of the right pulmonary artery. Surgical intervention was advised. However, the patient discharged againt operative plan. The literature on this entity is reviewed, and the diagnosis and etiology are discussed.